down

down (nominative singular)
downa (genitive singular)
downowi (dative singular)
downa (accusative singular)
downem (instrumental singular)
downie (locative singular)
downie (singular vocative)

Named after British physician John Langdon Down.

named-after

(informal, neurology) Down syndrome (genetic disorder caused by the presence of all or part of a third copy of chromosome 21 (a chromosomal excess), whereby the patients typically have a delay in cognitive ability and physical growth, as well as a small head and tilted eyelids)


Down syndrome

Named after John Langdon Haydon Down (1828–1896), an English physician who first described the condition as a distinct form of mental disability in the 1860s.

(neurology, medical genetics) A genetic disorder caused by the presence of all or part of a third copy of chromosome 21 (a chromosomal excess), whereby the patients typically have a delay in cognitive ability and physical growth, as well as a small head and tilted eyelids.

مُتَلَازِمَة دَاوْن

genetic disorder caused by a chromosomal excess

唐氏綜合症 /唐氏综合症

tong⁴ si⁶ zung³ hap⁶ zing³, tong⁴ si⁶ zung¹ hap⁶ zing³


FOP

en-noun

FOP (countable and uncountable, plural FOPs)

(medical genetics) Initialism of fibrodysplasia ossificans progressiva.


NPD

Initialism of narcissistic personality disorder.


fragile X syndrome

(medical genetics) A particular, genetic syndrome, caused by the excessive repetition of a particular trinucleotide.

frax-oireyhtymä

syndrome — see also Martin-Bell syndrome


syndrome de Down

LL-Q150 (fra)-Lepticed7-syndrome de Down.wav


cri du chat syndrome

From French cri du chat (“cry of the cat; cat's cry”). First described and coined by French pediatrician and geneticist Jérôme Lejeune in 1963.

coinage

(medicine) A rare genetic disorder identified by the catlike cry of the infant, caused by an absence of some genetic material on the fifth chromosome.

syndrome du cri du chat

congenital syndrome caused by an absence of some genetic material on the fifth chromosome


תסמונת דאון

he-noun

תִּסְמֹנֶת דָּאוּן

תסמונת דאון / תִּסְמֹנֶת דָּאוּן • (tismónet dáun) f

תִּסְמֹנֶת דָּאוּן (canonical)
tismónet dáun (romanization)

Down syndrome
Down syndrome#English:_Q47715

(neurology, medical genetics) Down syndrome (a genetic disorder caused by the presence of all or part of a third copy of chromosome 21 (a chromosomal excess), whereby the patients typically have a delay in cognitive ability and physical growth, as well as a small head and tilted eyelids)


leprecaunismo

leprecaunismi (plural)
leprechaunismo (alternative)

From leprecauno + -ismo (“-ism”), after English leprechaunism.

(medical genetics, usually uncountable) leprechaunism, Donohue syndrome


Turner syndrome

Named after Henry Turner who first described the condition in 1938.

(medicine, medical genetics) A particular genetic condition, caused by partially or completely missing an X chromosome (monosomy), that leads to sterility and other issues.


Marfan syndrome

en-noun

Marfan syndrome (usually uncountable, plural Marfan syndromes)

Named after French pediatrician Antoine Marfan, who first described the condition in 1896.

named-after

A genetic disorder of the connective tissue that causes defects in the heart valves and aorta.


GTP

en-noun

GTP (countable and uncountable, plural GTPs)

gene therapy product
gene therapy product#English

(biotechnology, medical genetics, molecular biology) Initialism of gene therapy product.

medical genetics; molecular biology; medical genetics; molecular biology


trisomie 21

trisomy 21, Down's syndrome, Down syndrome


Allan-Herndon-Dudley syndrome

Named after William Allan, Florence C. Dudley, and C. Nash Herndon.

A rare brain-development disorder, almost exclusively in males, that causes moderate to severe mental retardation and problems with movement.


DiGeorge syndrome

Named after pediatric endocrinologist Angelo DiGeorge, who described the syndrome in 1968.

(medical genetics) A syndrome caused by the deletion of a small piece of chromosome 22 in humans, associated with various birth defects.


fibrodysplasia ossificans progressiva

fibrodysplasia ossificans progressiva (uncountable)

/ˌfaɪbɹəʊdɪsˈpleɪzɪə ɒˈsɪfɪkɑːnz pɹəˈɡɹɛsɪvə/

/ˌfaɪbɹoʊdɪsˈpleɪʒ(i)ə ɒˈsɪfɪkænz pɹəˈɡɹɛsɪvə/

PIE word
 *h₃ésth₁
From English fibrodysplasia, and borrowed from New Latin ossificans + Latin prōgressīvā, literally “abnormal development of fibrous tissue with ossification that is progressive”:
* Fibrodysplasia is derived from fibro- (prefix meaning ‘fibre; fibrous’) (from Latin fibra (“fibre; filament”), ultimately from Proto-Indo-European *bʰeyd- (“to split”)) + dysplasia (“abnormal development of cells or tissue”) (from dys- (prefix meaning ‘abnormal; disease’) + -plasia (suffix meaning ‘formation; growth’)).
* Ossificans is from Latin ossīs (a plural form of ossum (“bone”), ultimately from Proto-Indo-European *h₃ésth₁ (“bone”)) + -ficāns (the present active participle of -ficō (suffix forming chiefly causative or factitive verbs)).
* Prōgressīvā is the ablative feminine singular of prōgressīvus (“progressive”), from prōgressus (“advanced, proceeded; developed, progressed”) (the perfect active participle of prōgredior (“to advance, proceed; (figurative) to develop, progress”), from prō- (prefix denoting a forward direction) + gradior (“to step; to walk; to advance”) (ultimately from Proto-Indo-European *gʰredʰ- (“to go; to walk”))) + -īvus (suffix forming adjectives).
The disease was originally termed myositis ossificans progressiva in 1868. The use of fibrodysplasia in place of myositis was suggested by K. H. Bauer and W. Bode in 1940, and adopted by the American medical geneticist Victor A. McKusick (1921–2008) in his work Heritable Disorders of Connective Tissue (1956).

der

The cardinal manifestations of fibrodysplasia ossificans progressiva are microdactyly and progressive ossification of fascia, [aponeuroses], and other fibrous structures related to muscles.

1956, Victor A[lmon] McKusick, “Concluding Comments”, in Heritable Disorders of Connective Tissue, St. Louis, Mo.: The C. V. Mosby Company, →OCLC, pages 194–195:

Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder of skeletal malformations and progressive extraskeletal ossification. We mapped FOP to chromosome 2q23-24 by linkage analysis and identified an identical heterozygous mutation (617G → A; R206H) in the glycine-serine (GS) activation domain of ACVR1, a BMP type I receptor, in all affected individuals examined.

2006 April 23, Eileen M. Shore [et al.], “A Recurrent Mutation in the BMP Type I Receptor ACVR1 Causes Inherited and Sporadic Fibrodysplasia Ossificans Progressiva”, in Nature Genetics, volume 38, New York, N.Y.: Nature Portfolio, published 1 May 2006, →DOI, →ISSN, →OCLC, abstract, page 525:

This year that show [Grey's Anatomy] featured a story about a patient with fibrodysplasia ossificans progressiva, a disorder in which damaged muscles and connective tissue turn to bone, forming, essentially, a second skeleton.

2007 June 18, Ginia Bellafante, “TV review: ‘Heartland’: Doctor, give me the news, and sew me up pretty”, in The New York Times, New York, N.Y.: The New York Times Company, →ISSN, →OCLC, archived from the original on 2021-01-26:

A mother of a one-year-old girl with an illness that turns muscle into bone has urged the government to do more to help research into rare conditions. Lexi Robins, of Hemel Hempstead has the very rare condition Fibrodysplasia Ossificans Progressiva (FOP).

2022 July 7, Alex Pope, “Hemel Hempstead Mother’s Funding Plea for Daughter’s Rare Disease”, in BBC News, archived from the original on 2023-12-11:

(medical genetics) A very rare, disabling genetic disorder of the connective tissue in which fibrous tissue (including ligaments, muscles, and tendons) ossifies (“transforms into bone”) when damaged.

Harry Raymond Eastlack
Julius Springer
Mütter Museum
Theodor von Dusch
Victor A. McKusick

خلل التنسج الليفي المعظم المترقي

genetic disorder in which fibrous tissue ossifies when damaged

進行性骨化性線維異形成症

しんこうせい こつかせい せんいいけいせいしょう

shin kōsei kotsu ka sei sen ī kei seishou

진행성 골화성 섬유이형성증

進行性骨化性纖維異形成症

ഫൈബ്രോഡിസ്പ്ലാസിയ ഓസിഫിക്കൻസ് പ്രോഗ്രെസ്സിവ

postępujące kostniejące zapalenie mięśni

фибродисплази́я оссифици́рующая прогресси́рующая


Angelman syndrome

After Dr. Harry Angelman, who first described it in 1965.

(medicine) A neurogenetic disorder characterized by intellectual and developmental delay, sleep disturbance, seizures, jerky movements (especially hand-flapping), and frequent laughter or smiling.


Williams syndrome

From Williams + syndrome.
First described in 1961 by New Zealander John C. P. Williams.

(medical genetics) A rare neurodevelopmental disorder characterized by a distinctive elfin facial appearance, developmental delay coupled with strong language skills, and cardiovascular problems.


Apert syndrome

Named after Eugène Apert, French physician.

(teratology) A form of acrocephalosyndactyly.


Edwards syndrome

Named after John H. Edwards, who first described the syndrome in 1960.

A genetic disorder caused by the presence of all or part of an extra 18th chromosome, and characterised by organ defects and developmental delays.

Edwardsin oireyhtymä

genetic disorder caused by the presence of an extra 18th chromosome


MERRF syndrome

Short for "myoclonic epilepsy with ragged red fibers".

(medicine, medical genetics) A rare mitochondrial disease characterized by progressive myoclonic epilepsy and clumps of diseased mitochondria that accumulate in the subsarcolemmal region of the muscle fiber and appear as "ragged red fibers" when stained.


Alagille syndrome

A genetic disorder affecting the liver, heart, kidney, and other systems.


Ehlers-Danlos syndrome

en-noun

Ehlers-Danlos syndrome (countable and uncountable, plural Ehlers-Danlos syndromes)

Named after two doctors, Edvard Ehlers and Henri-Alexandre Danlos, who identified the syndrome at the turn of the 20th century.

(medicine, pathology) Any of a group of inherited connective tissue disorders caused by a defect in the synthesis of collagen, and resulting in abnormally elastic skin, joints, muscles, etc.

埃勒斯-當洛綜合徵 /埃勒斯-当洛综合征

inherited disorder caused by a defect in the synthesis of collagen


prune belly syndrome

A rare genetic birth defect, mainly in males, affecting the urinary system and often accompanied by wrinkled skin on the abdomen.


Dupuytren's contracture

Named after Baron Guillaume Dupuytren, the surgeon who described a corrective operation for the affliction in the Lancet in 1831.

A fixed flexion contracture of the hand where the fingers bend towards the palm and cannot be fully extended (straightened). It is an inherited proliferative connective tissue disorder which involves the palmar fascia of the hand.

Dupuytren's contracture
Guillaume Dupuytren


Maffucci syndrome

Named after Italian pathologist Angelo Maffucci (1847–1903), who first described it.

named-after

(medical genetics) A very rare disorder in which multiple benign tumors of cartilage, (enchondromas), develop within the bones.


stone man syndrome

(medical genetics, informal) Synonym of fibrodysplasia ossificans progressiva


nail-patella syndrome

(medical genetics) A genetic disorder that results in small, poorly developed nails, kneecaps, and other body parts.

síndrome unha-patela

genetic disorder that results in poorly developed nails and kneecaps


citrullinemia

(medicine, medical genetics) A disorder of the urea cycle that causes ammonia and other toxic substances to accumulate in the blood.


síndrome de Down

(medical genetics) Down's syndrome / Down syndrome


Lambert-Eaton myasthenic syndrome

en-noun

Lambert-Eaton myasthenic syndrome (uncountable)

Lambert, Eaton and Rooke at the Mayo Clinic were the first physicians to substantially describe the clinical and electrophysiological findings of the disease in 1956.

A rare autoimmune disorder characterized by muscle weakness of the limbs.


Aicardi syndrome

First recognized as a distinct syndrome in 1965 by Jean Aicardi, a French neurologist.

A rare genetic malformation syndrome characterized by retinal abnormalities, seizures, and partial or complete absence of the corpus callosum.


leprechaunism

Donohue syndrome
Donohue syndrome#English

(medical genetics) Synonym of Donohue syndrome


Donohue syndrome

Named after Canadian pathologist William L. Donohue (1906–1985), who discovered it.

named-after

(medical genetics) A rare, severe genetic disorder resulting in elfin facial features and an impaired insulin receptor.


bubble boy disease

Due to some sufferers who have become famous for living in a sterile environment, or a "bubble".

(medicine, medical genetics) Severe combined immunodeficiency.


síndrome de Alagille

(medical genetics) Alagille syndrome (a rare genetic disorder affecting various organs and systems)


síndrome de Aicardi

(medical genetics) Aicardi syndrome (a rare genetic malformation syndrome)


síndrome de Allan-Herndon-Dudley

pt-noun

síndrome de Allan-Herndon-Dudley f (uncountable)

Allan-Herndon-Dudley syndrome
Allan-Herndon-Dudley syndrome

(medical genetics) Allan-Herndon-Dudley syndrome (a rare brain-development disorder)


síndrome de Angelman

(medical genetics) Angelman syndrome (a neurogenetic disorder)


síndrome de Apert

(medical genetics, teratology) Apert syndrome (a form of acrocephalosyndactyly)


síndrome de Ehlers-Danlos

síndrome de Ehlers-Danlos f (uncountable)

Ehlers-Danlos syndrome
Ehlers-Danlos syndrome

(medical genetics) Ehlers-Danlos syndrome (inherited disorder caused by a defect in the synthesis of collagen)


Langer-Giedion syndrome

A genetic disorder characterised by fine sparse scalp hair, thin nails, a pear-shaped broad nose, and cone-shaped epiphyses of the middle phalanges of some fingers and toes.


síndrome de Edwards

(medical genetics) Edwards syndrome (genetic disorder caused by the presence of an extra 18th chromosome)


síndrome do cri du chat

(medical genetics) cri du chat (congenital syndrome caused by an absence of some genetic material on the fifth chromosome)


síndrome unha-patela

nail-patella syndrome
nail-patella syndrome

(medical genetics) nail-patella syndrome (disorder that results in poorly developed nails and kneecaps)


Kallman syndrome

Described in a paper published in 1944 by Franz Josef Kallmann, a German-American geneticist.

A rare genetic condition characterized by anosmia or hyposmia and a failure to start or to complete puberty.


genetic disorder

en-noun

genetic disorder (plural genetic disorders)

A female and two males, all young, all fertile, two afflicted with the genetic disorder.

1989, Octavia E. Butler, “Part III, Chapter 7”, in Imago, page 211:

Any medical condition that is directly caused by an abnormality in the genes.


síndrome de Williams

(medical genetics) Williams syndrome (a rare neurodevelopmental disorder)


adermatoglyphia

ādûr'mətōglĭʹfĭə

/eɪˌdɜː.mə.təʊˈɡlɪ.fɪ.ə/

From Ancient Greek ἀ- (a-, the alpha privativum, a prefix forming words having a sense opposite to the word or stem to which it is attached; a-) + δέρμα (dérma, “skin”) + γλυφή (gluphḗ, “carving”) + -ία (-ía, suffix forming feminine abstract nouns); analysable as a- + dermato- + glyph + -a.

der

Monogenic disorders offer unique opportunities for researchers to shed light upon fundamental physiological processes in humans. We investigated a large family affected with autosomal-dominant adermatoglyphia (absence of fingerprints) also known as the "immigration delay disease."

2011 August 12, Janna Nousbeck et al., “A Mutation in a Skin-specific Isoform of SMARCAD1 Causes Autosomal-dominant Adermatoglyphia”, in American Journal of Human Genetics, volume 89, number 2, →DOI, abstract, page 302:

A rare genetic condition called adermatoglyphia leaves some people with no fingerprints at all.

2017, Graham Lawton, Jeremy Webb, “The Body”, in How to be Human: The Ultimate Guide to Your Amazing Existence, London: John Murray; New York, N.Y.: Nicholas Brealey Publishing, →ISBN:

The autosomally dominant genetic disorder which causes this condition.

皮纹病

rare congenital absence of epidermal ridges; genetic disorder which causes this condition


Muckle-Wells syndrome

First described in 1962 by Thomas James Muckle and Michael Vernon Wells.

(medical genetics, rheumatology, immunology) A rare autosomal-dominant disease that causes sensorineural deafness and recurrent hives, and can lead to amyloidosis.


Stickler syndrome

It was first studied and characterized by Gunnar B. Stickler in 1965.

(medical genetics) A genetic disorder affecting the connective tissue, characterized by facial abnormalities, ocular problems, hearing loss, and joint problems.


فقم

فَقَم (canonical)
faqam (romanization)
فَقَم (indefinite informal singular triptote)
الْفَقَم (definite informal singular triptote)
فَقَم (construct informal singular triptote)
فَقَمٌ (indefinite nominative singular triptote)
الْفَقَمُ (definite nominative singular triptote)
فَقَمُ (construct nominative singular triptote)
فَقَمًا (accusative indefinite singular triptote)
الْفَقَمَ (accusative definite singular triptote)
فَقَمَ (accusative construct singular triptote)
فَقَمٍ (genitive indefinite singular triptote)
الْفَقَمِ (definite genitive singular triptote)
فَقَمِ (construct genitive singular triptote)


epidermodysplasia verruciformis

human papillomavirus
human papillomavirus

(medical genetics) A rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV), leading to polymorphous cutaneous lesions.


en-noun

emotionally unstable personality disorder (plural emotionally unstable personality disorders)

borderline personality disorder
borderline personality disorder#English

Synonym of borderline personality disorder


Urbach-Wiethe disease

First officially reported in 1929 by Erich Urbach and Camillo Wiethe.

(pathology, endocrinology, medical genetics) A very rare recessive genetic disorder with varying symptoms that may include a hoarse voice, lesions and scarring on the skin, easily damaged skin with poor wound healing, dry, wrinkly skin, and beading of the papules around the eyelids.


Dravet syndrome

First described in 1978 by Charlotte Dravet.

(medical genetics) An autosomal-dominant genetic disorder that causes a catastrophic form of epilepsy, usually beginning in infancy, with prolonged seizures that are often triggered by high temperatures or fever.

schwere frühkindliche myoklonische Epilepsie


uncombable hair syndrome

(medical genetics, dermatology) An extremely rare structural anomaly of the hair with a variable degree of effect, characterized by hair that is silvery, dry, frizzy, wiry, and impossible to comb.


Börjeson–Forssman–Lehmann syndrome

intellectual disability
intellectual disability

(medical genetics) A rare genetic disorder that causes intellectual disability, obesity, and growth defects.


zespół Downa

zespół Downa (nominative singular)
zespołu Downa (genitive singular)
zespołowi Downa (dative singular)
zespół Downa (accusative singular)
zespołem Downa (instrumental singular)
zespole Downa (locative singular)
zespole Downa (singular vocative)
syndrom Downa (alternative)

(neurology) Down syndrome (genetic disorder caused by the presence of all or part of a third copy of chromosome 21 (a chromosomal excess), whereby the patients typically have a delay in cognitive ability and physical growth, as well as a small head and tilted eyelids)


pseudoxanthoma elasticum

A genetic disease that causes mineralization of elastic fibers in certain tissues, typically leading to premature atherosclerosis and to problems with the skin and eyes.


PXE

pseudoxanthoma elasticum
pseudoxanthoma elasticum#English

(pathology) Initialism of pseudoxanthoma elasticum.


methylmalonic acidemia

(medical genetics, endocrinology) An autosomal recessive metabolic disorder that disrupts normal amino acid metabolism.


áápii

áápiikoana


Shprintzen-Goldberg syndrome

Named after R. B. Goldberg and R. J. Shprintzen.

(medicine, medical genetics) A congenital multiple-anomaly syndrome involving craniosynostosis, abdominal hernias, cognitive impairment, and other skeletal malformations.


maladie de Dupuytren

Dupuytren's contracture
Dupuytren's contracture


sindrom Down

id-noun

sindrom Down (plural sindrom-sindrom Down)

Named after English physician John Langdon Haydon Down (1828–1896), who first described the condition as a distinct form of mental disability in the 1860s.

named-after

John Langdon Haydon Down
id:sindrom Down


sindrom Down

ms-noun

سيندروم داون

sindrom Down (Jawi spelling سيندروم داون, plural sindrom-sindrom Down, informal 1st possessive sindrom Downku, 2nd possessive sindrom Downmu, 3rd possessive sindrom Downnya)

سيندروم داون (Jawi)
sindrom-sindrom Down (plural)
sindrom Down ku (first-person informal possessive)
sindrom Down mu (possessive second-person)
sindrom Down nya (possessive third-person)

John Langdon Haydon Down
ms:sindrom Down


síndrome de Marfan

Named after French pediatrician Antoine Marfan, who first described the condition in 1896.


syndrome de Marfan

fr-noun

syndrome de Marfan m (plural syndromes de Marfan)


sindrom Marfan

id-noun

sindrom Marfan (plural sindrom-sindrom Marfan)


sindrom Marfan

ms-noun

sindrom Marfan (plural sindrom-sindrom Marfan, informal 1st possessive sindrom Marfanku, 2nd possessive sindrom Marfanmu, 3rd possessive sindrom Marfannya)

sindrom-sindrom Marfan (plural)
sindrom Marfan ku (first-person informal possessive)
sindrom Marfan mu (possessive second-person)
sindrom Marfan nya (possessive third-person)


馬凡氏症候群

ㄇㄚˇ ㄈㄢˊ ㄕˋ ㄓㄥˋ ㄏㄡˋ ㄑㄩㄣˊ

Мафаньши чжэнхоуцюнь

/mä²¹⁴⁻²¹ fän³⁵ ʂʐ̩⁵¹⁻⁵³ ʈ͡ʂɤŋ⁵¹⁻⁵³ xoʊ̯⁵¹ t͡ɕʰyn³⁵/


Marfan sendromu

head

Marfan sendromu (definite accusative Marfan sendromunu, uncountable)

Marfan sendromunu (accusative definite)
Marfan sendromu (nominative singular)
sendromları (nominative plural)
Marfan sendromunu (accusative definite singular)
sendromlarını (accusative definite plural)
Marfan sendromuna (dative singular)
sendromlarına (dative plural)
Marfan sendromunda (locative singular)
sendromlarında (locative plural)
Marfan sendromundan (ablative singular)
sendromlarından (ablative plural)
Marfan sendromunun (genitive singular)
sendromlarının (genitive plural)


zespół Marfana

zespół Marfana (nominative singular)
zespołu Marfana (genitive singular)
zespołowi Marfana (dative singular)
zespół Marfana (accusative singular)
zespołem Marfana (instrumental singular)
zespole Marfana (locative singular)
zespole Marfana (singular vocative)

Marfan syndrome (genetic disorder of the connective tissue that causes defects in the heart valves and aorta)


zespół Turnera

zespół Turnera (nominative singular)
zespołu Turnera (genitive singular)
zespołowi Turnera (dative singular)
zespół Turnera (accusative singular)
zespołem Turnera (instrumental singular)
zespole Turnera (locative singular)
zespole Turnera (singular vocative)

Named after American endocrinologist Henry Turner, who first described the condition in 1938.

named-after

Turner syndrome (particular genetic condition, caused by partially or completely missing an X chromosome (monosomy), that leads to sterility and other issues)


Turner sendromu

head

Turner sendromu (definite accusative Turner sendromunu, uncountable)

Turner sendromunu (accusative definite)
Turner sendromu (nominative singular)
sendromları (nominative plural)
Turner sendromunu (accusative definite singular)
sendromlarını (accusative definite plural)
Turner sendromuna (dative singular)
sendromlarına (dative plural)
Turner sendromunda (locative singular)
sendromlarında (locative plural)
Turner sendromundan (ablative singular)
sendromlarından (ablative plural)
Turner sendromunun (genitive singular)
sendromlarının (genitive plural)


síndrome de Turner

(medicine, medical genetics) Turner syndrome


síndrome X frágil

(medicine, medical genetics) fragile X syndrome


síndrome de Klinefelter

Named after Harry Klinefelter, who identified the condition in the 1940s.

Klinefelter syndrome
Klinefelter syndrome

(medicine, medical genetics) Klinefelter syndrome


克蘭費爾特症候群

ㄎㄜˋ ㄌㄢˊ ㄈㄟˋ ㄦˇ ㄊㄜˋ ㄓㄥˋ ㄏㄡˋ ㄑㄩㄣˊ

кэланьфэйэртэ чжэнхоуцюнь

/kʰɤ⁵¹ län³⁵ feɪ̯⁵¹ ˀɤɻ²¹⁴⁻²¹ tʰɤ⁵¹⁻⁵³ ʈ͡ʂɤŋ⁵¹⁻⁵³ xoʊ̯⁵¹ t͡ɕʰyn³⁵/


克氏症候群

ㄎㄜˋ ㄕˋ ㄓㄥˋ ㄏㄡˋ ㄑㄩㄣˊ

Кэши чжэнхоуцюнь

/kʰɤ⁵¹⁻⁵³ ʂʐ̩⁵¹⁻⁵³ ʈ͡ʂɤŋ⁵¹⁻⁵³ xoʊ̯⁵¹ t͡ɕʰyn³⁵/


sindrom Klinefelter

id-noun

sindrom Klinefelter (plural sindrom-sindrom Klinefelter)

Named after Harry Klinefelter, who first described the condition in 1940.


sindrom Klinefelter

ms-noun

sindrom Klinefelter (plural sindrom-sindrom Klinefelter, informal 1st possessive sindrom Klinefelterku, 2nd possessive sindrom Klinefeltermu, 3rd possessive sindrom Klinefelternya)

sindrom-sindrom Klinefelter (plural)
sindrom Klinefelter ku (first-person informal possessive)
sindrom Klinefelter mu (possessive second-person)
sindrom Klinefelter nya (possessive third-person)


ターナー症候群

ja-noun

^ターナー しょうこうぐん

ターナー症(しょう)候(こう)群(ぐん) • (Tānā shōkōgun)

ターナー症候群 (canonical)
Tānā shōkōgun (romanization)

[ta̠ːna̠ːɕo̞ːko̞ːɡɯ̟̃ɴ]

Henry Turner (endocrinologist)
ja:ターナー症候群


特納氏症

ㄊㄜˋ ㄋㄚˋ ㄕˋ ㄓㄥˋ

/tʰɤ⁵¹⁻⁵³ nä⁵¹⁻⁵³ ʂʐ̩⁵¹⁻⁵³ ʈ͡ʂɤŋ⁵¹/

/tʰɤ⁵¹⁻⁵³ nä⁵¹⁻⁵³ ʂʐ̩⁵¹⁻⁵³ ʈ͡ʂɤŋ⁵¹/


синдром Тернера

ru-noun+

синдро́м Те́рнера • (sindróm Térnera) n inan (genitive синдро́ма Те́рнера, uncountable)

синдро́м Те́рнера (canonical)
sindróm Térnera (romanization)
синдро́ма Те́рнера (genitive)
синдро́м Те́рнера (nominative singular)
синдро́ма Те́рнера (genitive singular)
синдро́му Те́рнера (dative singular)
синдро́м Те́рнера (accusative singular)
синдро́мом Те́рнера (instrumental singular)
синдро́ме Те́рнера (prepositional singular)

ru:синдром Тернера


синдром Тернера

uk-noun

синдро́м Те́рнера

синдро́му Те́рнера

синдро́м Те́рнера • (syndróm Térnera) n inan (genitive синдро́му Те́рнера, uncountable)

синдро́м Те́рнера (canonical)
syndróm Térnera (romanization)
синдро́му Те́рнера (genitive)
синдро́м Те́рнера (nominative singular)
синдро́му Те́рнера (genitive singular)
синдро́мові Те́рнера (dative singular)
синдро́му Те́рнера (dative singular)
синдро́м Те́рнера (accusative singular)
синдро́мом Те́рнера (instrumental singular)
синдро́му Те́рнера (locative singular)
синдро́мі Те́рнера (locative singular)
синдро́ме Те́рнера (singular vocative)

uk-ndecl

синдро́м<M.sg> Те́рнера

uk:синдром Тернера


синдром Шерешевского-Тернера

ru-noun+

Шереше́вского

синдро́м Шереше́вского Те́рнера • (sindróm Šerešévskovo Térnera) n inan (genitive синдро́ма Шереше́вского Те́рнера, nominative plural синдро́мы Шереше́вского Те́рнера, genitive plural синдро́мов Шереше́вского Те́рнера)

синдро́м Шереше́вского Те́рнера (canonical)
sindróm Šerešévskovo Térnera (romanization)
синдро́ма Шереше́вского Те́рнера (genitive)
синдро́мы Шереше́вского Те́рнера (nominative plural)
синдро́мов Шереше́вского Те́рнера (genitive plural)
синдро́м Шереше́вского Те́рнера (nominative singular)
синдро́мы Шереше́вского Те́рнера (nominative plural)
синдро́ма Шереше́вского Те́рнера (genitive singular)
синдро́мов Шереше́вского Те́рнера (genitive plural)
синдро́му Шереше́вского Те́рнера (dative singular)
синдро́мам Шереше́вского Те́рнера (dative plural)
синдро́м Шереше́вского Те́рнера (accusative singular)
синдро́мы Шереше́вского Те́рнера (accusative plural)
синдро́мом Шереше́вского Те́рнера (instrumental singular)
синдро́мами Шереше́вского Те́рнера (instrumental plural)
синдро́ме Шереше́вского Те́рнера (prepositional singular)
синдро́мах Шереше́вского Те́рнера (plural prepositional)

Named after American endocrinologist Henry Turner, who first described the condition in 1938, however, the condition was already discovered already by the Soviet endocrinologist Nikolai Shereshevsky in 1925 before Turner's discovery.

(medicine, medical genetics) Turner syndrome (literally, “Shereshevsky-Turner syndrome”)

ru:синдром Шерешевского-Тернера

en-синдром_Шерешевского-Тернера-ru-noun-lZtoA8zP


pl-noun

postępujące kostniejące zapalenie mięśni n

/pɔs.tɛm.puˈjɔn.t͡sɛ kɔs.tɲɛˈjɔn.t͡sɛ za.paˈlɛ.ɲɛ ˈmjɛw̃ɕ.ɲi/

/pɔs.tɛm.puˈjɔn.t͡sɛ kɔs.tɲɛˈjɔn.t͡sɛ za.paˈlɛ.ɲɛ ˈmjɛɲɕ.ɲi/

Literally, “progressive ossifying myositis”.

lit

Według FAQ (Najczęściej zadawanych pytań) Muzeum Müttera, instytucja przyjmuje szczątki ludzkie tylko w wyjątkowych okolicznościach, jak w 2018 roku, kiedy muzeum przekazano drugi szkielet z postępującym kostniejącym zapaleniem mięśni (fibrodysplazją, FOP). To niezwykle rzadka, wyniszczająca choroba genetyczna, w której tkanka łączna zmienia się w kostną. Cierpiała na nią Carol Orzel, która pragnęła przekazać swoje szczątki[…]

2021 April 15, Megan Rosenbloom, Mroczne archiwa. Śledztwo w poszukiwaniu książek oprawionych w ludzką skórę, Otwarte, →ISBN:

According to the Mütter Museum's FAQs, the institution only accepts human remains in exceptional circumstances, as in 2018, when a second skeleton with fibrodysplasia ossificans progressiva (fibrodysplasia, FOP) was donated to the museum. This is an extremely rare, debilitating genetic disease in which connective tissue turns into bone. It was suffered by Carol Orzel, who wished to donate her remains […]

fibrodysplasia ossificans progressiva
fibrodysplasia ossificans progressiva

(medical genetics) fibrodysplasia ossificans progressiva


trismus pseudocamptodactyly syndrome

en-noun

trismus pseudocamptodactyly syndrome (plural not attested)

(medicine, medical genetics) A rare genetic disorder whose defining feature is the inability to open the mouth completely (trismus).